Detalles de la búsqueda
1.
Steroidogenic factor-1 (SF-1) gene mutation as a frequent cause of primary amenorrhea in 46,XY female adolescents with low testosterone concentration.
Reprod Biol Endocrinol
; 8: 28, 2010 Mar 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-20302644
2.
Mother-to-son transmission of a luteinizing hormone receptor activating mutation in a prepubertal child with testotoxicosis.
J Pediatr Endocrinol Metab
; 22(3): 275-9, 2009 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-19492585
3.
Molecular diagnosis of 5alpha-reductase-2 gene mutation in two Indian families with male pseudohermaphroditism.
Asian J Androl
; 10(5): 815-8, 2008 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-18097518
4.
Activating mutations of the stimulatory g protein in juvenile ovarian granulosa cell tumors: a new prognostic factor?
J Clin Endocrinol Metab
; 91(5): 1842-7, 2006 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-16507630
5.
Association between androgen receptor gene polymorphism and bone density in older women using hormone replacement therapy.
Maturitas
; 55(4): 325-33, 2006 Nov 20.
Artículo
en Inglés
| MEDLINE | ID: mdl-16759824
6.
Phenotypic variation of SF1 gene mutations.
Adv Exp Med Biol
; 707: 67-72, 2011.
Artículo
en Inglés
| MEDLINE | ID: mdl-21691958
7.
Androgen insensitivity syndrome: somatic mosaicism of the androgen receptor in seven families and consequences for sex assignment and genetic counseling.
J Clin Endocrinol Metab
; 90(1): 106-11, 2005 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-15522944
8.
Association between androgen receptor gene CAG repeat polymorphism and plasma testosterone levels in postmenopausal women.
J Soc Gynecol Investig
; 12(2): 135-41, 2005 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-15695110
9.
Is Hypospadias Associated with Prenatal Exposure to Endocrine Disruptors? A French Collaborative Controlled Study of a Cohort of 300 Consecutive Children Without Genetic Defect.
Eur Urol
; 68(6): 1023-30, 2015 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-26007639
10.
An N-terminal WT1 mutation (P181S) in an XY patient with ambiguous genitalia, normal testosterone production, absence of kidney disease and associated heart defect: enlarging the phenotypic spectrum of WT1 defects.
Eur J Endocrinol
; 150(6): 825-30, 2004 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-15191353
11.
Apparent male gender identity in a patient with complete androgen insensitivity syndrome.
Arch Sex Behav
; 38(6): 873-5, 2009 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-19636694
12.
NR5A1 (SF-1) gene variants in a group of 26 young women with XX primary ovarian insufficiency.
Fertil Steril
; 99(2): 484-9, 2013 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-23153500
13.
Minor hypospadias: the "tip of the iceberg" of the partial androgen insensitivity syndrome.
PLoS One
; 8(4): e61824, 2013.
Artículo
en Inglés
| MEDLINE | ID: mdl-23637914
14.
Screening of MAMLD1 mutations in 70 children with 46,XY DSD: identification and functional analysis of two new mutations.
PLoS One
; 7(3): e32505, 2012.
Artículo
en Inglés
| MEDLINE | ID: mdl-22479329
15.
Predominant Sertoli cell deficiency in a 46,XY disorders of sex development patient with a new NR5A1/SF-1 mutation transmitted by his unaffected father.
Fertil Steril
; 95(5): 1788.e5-9, 2011 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-21163476
16.
'Idiopathic' partial androgen insensitivity syndrome in 28 newborn and infant males: impact of prenatal exposure to environmental endocrine disruptor chemicals?
Eur J Endocrinol
; 165(4): 579-87, 2011 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-21788424
17.
Phenotypical, biological, and molecular heterogeneity of 5α-reductase deficiency: an extensive international experience of 55 patients.
J Clin Endocrinol Metab
; 96(2): 296-307, 2011 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-21147889
18.
Isolated micropenis reveals partial androgen insensitivity syndrome confirmed by molecular analysis.
Asian J Androl
; 12(4): 561-6, 2010 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-20305676
19.
Complete androgen insensitivity syndrome is frequently due to premature stop codons in exon 1 of the androgen receptor gene: an international collaborative report of 13 new mutations.
Fertil Steril
; 94(2): 472-6, 2010 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-19463997
20.
Mutations of CXorf6 are associated with a range of severities of hypospadias.
Eur J Endocrinol
; 159(4): 453-8, 2008 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-18635673